UNASSIGNED: Congenital upper limb amelia is one of the extremely rare conditions. It is defined as a complete absence of upper limbs. It may present as isolated or with other associated anomalies.
UNASSIGNED: We present a case of a 2-year-old male child with congenital complete absence of bilateral upper limb. This male child was born after four female children. With the advancement in modern-era prenatal diagnostic facilities and a better understanding of fetal-maternal drug pharmacology, such cases are rare entity.
UNASSIGNED: Amelia is a very rare and challenging situation for clinicians. Regular prenatal checkup and knowledge of maternal and fetal drug interactions during pregnancy are key factors for prevention.

Conjoined twins are identical twins joined in utero and are a rare phenomenon. This report discusses a case of female thoraco-omphalo-ischiopagus tripus conjoined twins. The twins were separated at age two, and once medically stable, spent one month in inpatient rehabilitation to improve their sitting balance and gross motor skills. This was followed by outpatient physical therapy. The twins initially had customized ZipZac seats, which they were able to wheel independently. After six months of therapy, the girls began walking with posterior walkers and prostheses. The hemipelvectomy prosthesis included a customized thoracolumbosacral orthosis component and was directly attached to a non-articulated pylon. A manual-locking hip joint was added to accommodate sitting. An articulated ankle-foot orthosis was used for the intact leg. Care of formerly conjoined twins requires comprehensive care from a multidisciplinary team involving, but not limited to, a physiatrist, orthopaedic surgeon, physical therapist, and orthotist/prosthetist. Complex congenital limb deficiencies are often a major undertaking for the rehabilitation team as continuous treatment and management are needed throughout the patient\'s lifetime due to growth, development, and evolving physical demands. Anatomic variations must be examined on a case-by-case basis but often include limb deficiencies, orthopedic abnormalities, and organ comorbidities.

Paediatric amputation is one of the treatment options for various indications, namely, trauma, infection, tumour and congenital problems, and some may be born with congenital problems. It differs from adult amputation as they have higher physical demands, and special complications may arise. Stump overgrowth by far is the commonest complication in paediatric transosseous amputation, while varus deformity of the tibia stump was reported sparsely in the literature. The growth discrepancy of the proximal tibia and fibula physis coupled with distal tibiofibular synostosis may have resulted in proximal migration of the fibula, which later resulted in varus deformity of the stump. This will cause difficulty in prosthesis fitting and lead to painful stumps due to the pressure at the abnormal bony prominence. We report a case of congenital limb deficiencies in a 12-year-old male who was treated with below-knee amputation (BKA) and experienced progressive varus deformity of the stump that caused pain during prosthetic wear, which interfered with his gait. He had a varus deformity of 15 degrees of the stump, distal tibiofibular synostosis and proximal migration of the fibula head. As the conservative management by modification of the prosthesis had failed, he underwent open wedge proximal tibia corrective osteotomy, division of the synostosis and reduction of the fibula head. The surgical intervention was successful in alleviating his problem. All efforts must be made to ensure optimum prosthetic fitting in paediatric amputation patients to maintain the patient\'s daily lifestyle and activities.

Owing to the lack of trained professionals in amputee care, the pediatrician is often required to assist in the care of children with limb deficiencies. An overview of the causes and epidemiology of limb deficiency is provided, as well as an evaluation and diagnostic workup. Important considerations for surgical interventions are discussed and an introduction to prosthetic prescribing and care of the amputee is described. Common overuse syndromes and mental health issues are also reviewed. Finally, resources for funding of prosthetic devices, as well as support and education for clinicians and families are provided.

Pediatric midshaft humerus fractures are typically managed with a hanging arm cast, Sarmiento bracing, coaptation splint, or a combination of these treatment options. Here we report a novel use of a shoulder spica cast in the treatment of a midshaft humerus fracture in the presence of limb deficiency. Current treatments proved unsuccessful in maintaining adequate alignment, specifically the varus deformity of the fracture. A shoulder spica was able to successfully maintain acceptable alignment throughout the duration of the patient\'s healing process. This nontraditional use of a shoulder spica cast shows the practicality of its ability to be utilized for the treatment of unique upper extremity orthopedic obstacles.

Phantom limb pain (PLP) is a common consequence of the amputation of a limb. Persons with congenital limb absence (congenital amputees) or an acquired limb amputation at an early age seem to rarely experience PLP. However, the number of available studies and their sample sizes are low. In the present cross-sectional study, we assessed the presence of several phantom phenomena in a sample of 99 adult unilateral congenital amputees (con) of whom 34 had a limb correction later in life (limbc) and 153 adult participants with a unilateral amputation before the age of 6 years (subgroups: amputation between birth and 2 years (0-2y; n = 48), 3-4 years (3-4y; n = 46), and 5 to 6 years (5-6y; n = 59)). We found a higher prevalence and intensity of PLP in the 5-6y group compared to the other groups. Residual limb pain (RLP) intensity was higher in the 3 to 4 y and 5 to 6 y groups compared to the con group. Non-painful phantom limb sensation (PLS) intensity and telescoping intensity were higher in the 5 to 6 y group compared to the con and 0 to 2 y groups. Our results indicate that PLP prevalence as well as intensity is low when the limb loss happened before the age of 5 years. PERSPECTIVE: The prevalence of phantom limb pain, residual limb pain, and non-painful phantom limb sensation in congenital amputees and participants with an amputation early in life is low. This might be due to the missing or reduced nociceptive input from the residual limb to the brain and higher development-associated adaptability of the somatosensory system.

To determine whether children and adults with unilateral congenital upper limb amputation can control myoelectric prostheses with multiple degrees of freedom (DOF) using pattern recognition (PR) technology.
Seven participants (age 9-62 years) with unilateral congenital transradial amputation were tested on both their residual and sound side limbs to determine proficiency in controlling a virtual prosthesis using electromyographic signals captured by an array of surface electrodes that were processed using PR technology. Proficiency was measured through a virtual environment game called the target achievement control test, in which the testing protocol asked participants to match increasingly complex prosthesis postures with 1, 2, and 3 DOF.
All the participants successfully created a PR calibration at 1, 2, and 3 DOF with their residual limb during testing, and no differences in calibration accuracy were observed when comparing the residual versus sound upper limbs. No differences were noted in the mean completion rate on the target achievement control test between the residual and sound limbs.
Participants with a congenital upper limb amputation achieved PR control calibration of multi-DOF prostheses with proficiency and quality results of PR calibration that were comparable to those of their sound limb. This capability was observed in children as well as in adults. This demonstrates the potential for children and adults with a unilateral congenital transradial amputation to benefit from myoelectric prostheses with PR control.
The results from this study highlight the potential for patients in this population to benefit from myoelectric prostheses with PR control. Persons with unilateral congenital upper limb amputations can be considered for provision of this technology and enrollment in future research activities.

We present five members of a consanguineous Pakistani kinship with the most severe familial tetramelic transverse autopod deficiency reported to date and additionally having some of the common autosomal recessive Robinow syndrome-1 (RRS1) features including short stature, short neck, severe vertebral anomalies of kyphoscoliosis, hemivertebrae, fusion of thoracic vertebrae, broad forehead, and dental crowding. We mapped the locus of this atypical RRS and detected homozygous 8-nucleotide deletion c.1353_1360del (p.(Met452Alafs*4)) in ROR2, the gene responsible for RRS1. We did not find any other variant shared by all affected individuals that could possibly act as a modifier of limb defect. Autopods are affected in RRS1, but severe autopod deficiency is not a characteristic feature. Over 30 biallelic variants dispersed throughout the gene are known in ROR2-related RS, with no genotype-phenotype correlation for specific RRS1 features. Considering together with the sporadic case homozygous for variant p.(Arg442*) and the case homozygous for p.(Arg441Thrfs*16) in a family where heterozygous members have brachydactyly type B1, we propose that homozygous truncating variants that originate at residues 441-452 can cause severe autopod reduction anomalies, suggesting some genotype-phenotype correlation for this particular phenotype.

Congenital limb deficiency (CLD), one of the most common congenital anomalies, is characterized by hypoplasia/aplasia of one or more limb bones and can be isolated or syndromic. The etiology in CLD is heterogeneous, including environmental and genetic factors. A fraction remains with no etiological factor identified. We report the study of 44 Brazilian individuals presenting isolated or syndromic CLD, mainly with longitudinal defects. Genetic investigation included particularly next-generation sequencing (NGS) and/or chromosomal microarray. The overall diagnostic yield was 45.7%, ranging from 60.9% in the syndromic to 16.7% in the non-syndromic group. In TAR syndrome, a common variant in 3´UTR of RBM8A, in trans with 1q21.1 microdeletion, was detected, corroborating the importance of this recently reported variant in individuals of African ancestry. NGS established a diagnosis in three individuals in syndromes recently reported or still under delineation (an acrofacial dysostosis, Coats plus and Verheij syndromes), suggesting a broader phenotypic spectrum in these disorders. Although a low rate of molecular detection in non-syndromic forms was observed, it is still possible that variants in non-coding regions and small CNVs, not detected by the techniques applied in this study, could play a role in the etiology of CLD.

Purpose: This study aimed to clarify how children with congenital limb deficiencies visually attend to their bodies, particularly their limbs and prostheses.Methods: Participants included children with and without congenital limb deficiencies. They were shown photographs of themselves and their visual attention was measured using an eye tracker.Results: Six children with lower limb deficiencies (age [mean ± SD]: 8.8 ± 2.9; 2 girls and 4 boys), six children with upper limb deficiencies (age: 7.0 ± 2.3; 2 girls and 4 boys), and ten control children (age: 7.7 ± 1.9; 5 girls and 5 boys) were included. Children with congenital upper/lower limb deficiencies looked at their upper/lower limbs as often or more than the control children. Prompts to direct their visual attention to their limbs had limited efficacy.Conclusions: To improve the body knowledge of limbs, approaches other than visual recognition prompting, such as improving linguistic understanding, might be considered.